| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 21140673 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 21151554 | intergenic variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.882 | 0.040 | 10 | 129691518 | intron variant | A/C;G | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 11233902 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
1.000 | 0.080 | 11 | 284257 | synonymous variant | G/A;C | snv | 0.16; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 17 | 39725161 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.120 | 12 | 25209843 | missense variant | A/G;T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 3 | 133601021 | 3 prime UTR variant | G/A | snv | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 201880120 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.925 | 0.080 | 17 | 78357871 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 18 | 24477006 | missense variant | A/G | snv | 8.6E-02 | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 17 | 58280438 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 |